| Metadata | |
|---|---|
| ID | DOID:0112152 |
| Name | CHIME syndrome |
| Definition | A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/22444671/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:720639008 |
| Subsets |
DO_rare_slim |
| Synonyms |
coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome [EXACT] congenital disorder of glycosylation due to PIGL deficiency [EXACT] neuroectodermal dysplasia, CHIME type [EXACT] neuroectodermal syndrome, Zunich type [EXACT] PIGL-CDG [EXACT] Zunich neuroectodermal syndrome [EXACT] Zunich-Kaye syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |